Canonical Allele Identifier: PA658663199
Gene: CEP57 HGNC NCBI

Linked Data

ClinVar Variation Id: 472259
ClinVar RCV Id: RCV000525894 RCV003935493
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055494.2:p.Arg226His
CA6239561
NM_014679.5:c.677G>A